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DISEASE - endocrine and haem > General endocrine disease > Flashcards

General endocrine disease Flashcards

1
Q

what is cushing’s syndrome?

A

signs + symptoms associated with prolonged exposure to high levels of cortisol

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2
Q

what could you get with prolonged exposure to high levels of cortisol?

A

cushing’s syndrome

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3
Q

what is cushing’s disease?

A

cause of syndrome by a pituitary tumour that inc secretion of ACTH therefore inc cortisol

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4
Q

what could you suffer from if you had a pituitary tumour tat resulted in an inc level of serum ACTH?

A

cushing’s disease

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5
Q

what are the 4 causes of cushing’s syndrome?1

A

1 - iatrogenic - drugs
2 - pituitary tumour - releases ACTH therefore in cortisol
3 - adrenal tumour - inc cortisol (ACTH independent)
4 - ectopic tumour that secretes ACTH

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6
Q

what can happen to your skin with inc ACTH?

A

pigmentation

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7
Q

what are the features of cushing’s syndrome?

A 
weight gain
pigmentation
HTN
stretch marks
hirsuitism
diabetes
problems with periods
bruising
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8
Q

how would you investigate cushing’s?

A

9am cortisol after midnight dexamethasone
9am ACTH
scan for pituitary/adrenal tumours

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9
Q

what is congenital adrenal hyperplasia?

A

problem with the enzymes involved in cortisol production

causes either too much or too little cortisol

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10
Q

what are the 2 causes of CAH?

A

deficiency of 21-hydroxylase

autosomal dominant

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11
Q

what does 21-hydroxylase do?

A

enzyme in the steps to creating cortisol

converts 17 alpha-OH-progesterone into deoxycortisol

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12
Q

when is CAH noticed in patients?

A

21-hydroxylase deficiency = late on set

autosomal dom = seen as they develop

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13
Q

what are the features of CAH?

A 
sexual ambiguity
short
salt wsting
HTN
hirsuitism
irregular periods
hermaphroditism
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14
Q

how would you investigate CAH?

A

LH, FSH, testosterone, DHEAs

17 alpha-OH-progesterone before and after synacthen

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15
Q

what is addison’s disease?

A

hypoadrenalism

insufficient steroid hormones

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16
Q

what disease would you expect to see with hypoadrenalism/insufficient steroid hormones?

A

addison’s disease

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17
Q

what are 1ry and 2ry insufficiencies caused by in addison’s?

A

1ry - adrenal glands unable to produce sufficient steroids

2ry - insufficient pituitary or hypothalmic stimulation of adrenal glands

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18
Q

what are the key features of addison’s disease?

A 
fatigue
anorexia
weight loss
skin pigmentation
postural hypotension
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19
Q

what can be the cause of endocrine hypertension?

A

conn’s syndrome

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20
Q

what is conn’s syndrome?

A

endocrine hypertension

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21
Q

what is the cause of conn’s syndrome?

A

either hyperplasia or adenoma of the adrenal gland which releases aldosterone that decreases renin

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22
Q

what is a phaeochromocytoma?

A

tumour that secretes noradrenaline++ and adrenaline

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23
Q

where would you find a phaeochromocytoma?

A

90% adrenal medulla

10% extra-adrenal

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24
Q

what symptoms would you expect with a phaeochromocytoma?

A 
headaches
sweating
palpitations
PMH of poorly controlled HTN
sinus tachycardia
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25
Q

how would you treat a phaeochromocytoma?

A

alpha + beta blockers

surgery

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26
Q

what causes hypercalcaemia in a healthy person?

A 
1ry hyperparathyroidism
drugs - thiaziades, lithium
food containing vit d
milk-alkali syndrome
adrenal insufficiency
immobilisation
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27
Q

what causes hypercalcaemia in a sick person?

A

malignancy

granulomatous disease

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28
Q

what effect on serum Ca2+ and PO4 does PTH have?

A

inc Ca2+

dec PO4

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29
Q

what effect on urine Ca2+ and PO4 does PTH have?

A

inc both

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30
Q

what are the 3 types of hyperparathyroidism?

A

1ry
2ry
3ry

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31
Q

what happens in 1ry hyperparathyroidism?

A

excess PTH beuase of:
tumour (usually adenoma)
hyperplasia

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32
Q

what happens in 2ry hyperparathyroidism?

A

low Ca2+ for any reason causes excessive secretion of PTH

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33
Q

what happens in 3ry hyperparathyroidism?

A

autonomous secretion of PTH following chronic hypocalcaemia

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34
Q

how would you expect to diagnose 1ry hyperparathyroidism?

A

screening - usually asymptomatic

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35
Q

what symptoms could you get with 1ry hyperparathyroidism?

A

ass. with high serum Ca2+ - renal stones, fractures, corneal calcifications

stones, moans, thrones, psychiatric overtones

bradycardia, heartblock

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36
Q

how can malignancy cause malignant hypercalcaemia?

A

malignancy results in inc osteoclast bone resorption

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37
Q

what are the 3 types of hypoparathyroidism?

A

hypoparathyroidism
pseudohypoparathyroidism
pseudopseudohypoparathyroidism

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38
Q

what are the causes of hypoparathyroidism?

A 
post-surgical/radioactive iodine/chemo
poly-endocrne deficiency syndrome
idiopathic
hypomagnesaemia
mets
haemochromatosis
di george syndrome
biologically inactive PTH
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39
Q

what biochemistry would you expect with hypoparathyroidism?
Ca2+
PO4
PTH

A

Ca2+ - dec
PO4 - inc
PTH - dec

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40
Q

what does hypomagnesaemia cause?

A

dec PTH
PTH resistance
dec Ca2+ and K+

therefore hypoparathyroidism

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41
Q

what is pseudohypoparathyroidism?

A

resistance to PTH

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42
Q

what causes pseudohypoparathyroidism?

A

deficient protein G subunit

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43
Q

what is pseudopseudohypoparathyroidism?

A

inherited disorder

phenotype of pseudohypoparathyroidism but without the biochemistry

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44
Q

what is Albright’s hereditary osteodystrophy?

A

condition related to pseudohypoparathyroidism

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45
Q

what are the symptoms of Albright’s hereditary osteodystrophy?

A 
PTH resistance
short, obese
round face
short 4th metacarpal
subcutaneous calcifications
46
Q

what is primary male hypogonadism and what biochemistry would you expect?

A

problem with the testis
dec testosterone
inc FSH, LH

47
Q

what is secondary male hypogonadism and what biochemistry would you expect?

A

problem with FSH + LH secretion
dec testosterone
dec FSH, LH

48
Q

what could cause 1ry hypogonadism in men?

A 
kleinfelter's
orchitis
drugs
alcohol
chemo/radio
chronic kidney or liver disease
aging
androgen resistance
49
Q

what could cause 2ry hypogonadism in men?

A 
delayed puberty
cushings
drugs
OPIATES
anabolic steroids
chronic kidney + liver disease
HIV
DM
aging
obesity
hypopituitarism/prolacinaemia
kallman's
50
Q

what happens if male androgenism deficiency is in a foetus?

A

normal/almost normal female

51
Q

what happens if male androgenism deficiency is in puberty?

A

eunuchoid

no pubic hair - inc face

52
Q

what happens if male androgenism deficiency is in an adult?

A 
small or absent testis
gynaecomastia
infertility/sexual dysfunction
dec hair growth
skin wrinkling
flushes
small prostate
osteoperosis
53
Q

which syndrome is associated with 1ry male hypogonadism?

A

kleinfelter’s

54
Q

which syndrome is associated with 2ry male hypogonadism?

A

kallman’s

55
Q

what are the 3 main causes of gynaecomastia?

A

deficient testosterone
inc osetrogen
drug induced

56
Q

what is the most common cause of male foetal androgen deficiency?

A

failure of testosterone conversion

insufficiency/deficiency to 5-alpha-reductase

57
Q

what is secreted from the hypothalamus that activated FSH and LH secretion?

A

gonadotrophin releasing hormone (GnRH)

58
Q

which cells produce testosterone?

A

leydig cells in the presence of LH

59
Q

which cells nourish and develop sperm?

A

sertoli cells in the presence of FSH

60
Q

what are the gonadotropins?

A

LH + FSH

61
Q

what are the 2 types of precocious puberty?

A

central

pseudo

62
Q

which of the precocious puberties is gonadotropin-dependent and which is independent?

A

gonadotropin dependent = central pp

gonadotropin independent = pseudo pp

63
Q

what is the mechanism of central precocious puberty?

A

premature activation of the hypothalmic-pituitary-gonadal axis

64
Q

what are the causes of central precocious puberty?

A

idiopathic
tumours
hypothyroidism

65
Q

what is the mechanism of pseudo precocious puberty?

A

gonads develop independent of GnRH

66
Q

what are the causes of pseudo precocious puberty?

A

adrenal + gonadal disease

hCG secreting tumours

67
Q

how would someone with premature ovarian failure present?

A 
secondary amenorrhoea
vaginal dryness
menopausal flushes
normal 2ry sexual characteristics
high serum FSH
68
Q

what can cause premature ovarian failure?

A 
idiopathic
familial
turner's 
fragile x
poly-endocrine deficiency syndromes
chemo/radio
mumps
69
Q

what can cause primary amenorrhea?

A

1 - hypergonadotropic hypogonadism - primary ovarian failure
2 - hypogonadotropic hypogonadism - hypothalmic or pituitary failure
3 - excess steroid hormone production - CAH, tumours

70
Q

what can cause secondary amenorrhea?

A

1 - hypothalmic/pituitary disease
2 - pregnancy
3 - prolactinoma - non-cancerous swelling of the pituitary

71
Q

what are the symptoms of turner’s at birth?

A 
short
lymphoedema
webbed short neck
cubitus valgus
wide nipples
pigmented naevi
short 4th metacarpal
72
Q

how would you detect turner’s later in life?

A

absent 2ry sexual characteristics
primary amenorrhoea
growth failure

73
Q

what can cause androgen excess in females?

A

PCOS
adrenal or ovarian tumour
non-classical CAH

74
Q

what are the signs of androgen excess in women?

A

hirsuitism
temporal balding
clitoromegaly

75
Q

A 66-year-old woman with haemoptysis, weight loss and hypokalaemia. Her serum cortisol concentrations are high following a high-dose dexamethasone suppression test.

A

Cushing’s syndrome due to ectopic ACTH

why? lung cancer secreting ACTH

76
Q

A 16-year-old woman with primary amenorrhoea, hirsutism and some signs of virilisation, with raised 17-hydroxyprogesterone concentrations following a synacthen test.

A

CAH

why? age, inc steroid hormones, 1ry amenorrhoea

77
Q

A 34-year-old woman presenting with a history of infertility and oligomenorrhoea. On examination, she is overweight with mild hirsutism and no other clinical signs. Her serum LH/FSH ratio is raised, serum cortisol is normal and her serum testosterone is at the upper limit of the female reference range.

A

PCOS

why? age, Hx infertility + period probs, hirsuit, high steroid hormones

78
Q

A 38-year-old woman who presents with pigmentation and secondary amenorrhoea, and who has raised ACTH and low serum cortisol on investigation.

A

Addison’s disease

why? high ACTH, insufficient steroid hormone, 2ry amenorrhoea due to anorexia?

79
Q

A 42-year-old woman, previously well and on no medication, who drinks 20 units of alcohol per week. She gives a 12 month history of easy bruising, difficulty getting up from a sitting position, weight gain and mild hirsutism. Her serum cortisol is raised following a short dexamethasone suppression test.

A

Cushing’s disease (pituitary adenoma)

why?

80
Q

A 60 year lady is referred with a corrected
serum calcium of 1.85 mmol/l (2.15-2.60). On
examination she has a neck scar.
1. What is the likely diagnosis?
2. List initial investigations
3. What drug might be administered

A

1 - post-operative primary hypoparathyroidism
2 - serum Ca2+, PTH
3 - oral 1 alpha-hydroxycholecalciferol

81
Q

80 year old lady complains of significant weight
loss, poor appetite, general malaise, and
increased skin pigmentation. Her GP has noted
significant hypokalaemia
1. What is the likely diagnosis?
2. Describe initial investigations

A
  1. Cushing’s Syndrome/ectopic
    ACTH secretion
  2. Urea and electrolytes, cortisol,
    glucose, chest x-ray
82
Q

Female infant with extremely short stature, a renal abnormality and a systolic murmur:
1. What physical sign can you see in lower extremities?
2. Name possible diagnosis
3. List five associated endocrine and
metabolic defects

A
  1. Lymphoedema
  2. Turner’s Syndrome
  3. Growth failure
    Primary amenorrhoea
    Hypothyroidism
    Type 2 diabetes
    Obesity
83
Q 
A 55 year old man presents with
hypocalcaemia and hypokalaemia. He is on
medication for dyspepsia.
1. What is the likely underlying cause?
2. What drug is he taking?
3. Describe initial investigations
A
  1. Hypomagnesaemia (induced by PPIs)
  2. Protein pump inhibitor:
    Omeprazole, Lansoprazole,
    Pantoprazole
  3. Serum magnesium, calcium, PTH
    and potassium
84
Q

21 year old lady with primary amenorrhoea,
scanty body hair and a past history of bilateral
inguinal hernia repairs.
1. Name probable diagnosis
2. List initial investigations

A
  1. Complete Androgen
    Insensitivity Syndrome
  2. Chromosomal analysis, LH,
    FSH and testosterone
85
Q

A 62 year old lady with a history of renal stones is
referred to the Orthopaedic Surgeons with bone pain.
Chest x-ray reveals a clavicular fracture.
1. What would an x-ray show?
2. What is the diagnosis?
3. List initial investigations

A
  1. Sub-periosteal erosions
  2. Primary hyperparathyroidism
  3. Serum calcium, phosphate,
    alkaline phosphatase and PTH
86
Q

20 year old man whose arm span exceeds his
height by 5 cm is concerned over his lack of
maturity
1. What previous surgery could he have had on his chest?
2. What is the likely diagnosis?
3. List initial investigations

A
  1. Mammoplasty
  2. Pre-pubertal androgen deficiency –
    Klinefelter’s Syndrome
  3. Chromosomal analysis, LH, FSH
    and testosterone levels
87
Q 
45 year old lady feels generally unwell with poor appetite and weight loss of 6 kg. Her GP
has noticed mild hyperkalaemia.
1. What are the physical signs?
2. What is the diagnosis?
3. Describe initial investigations
A 
1. Vitiligo and increased skin
pigmentation
2. Addison’s disease
3. Urea and electrolytes, cortisol,
ACTH, glucose and Synacthen test
88
Q 
78 year old man with a corrected serum calcium of 3.8 mmol/l (2.15-2.60) is admitted confused and dehyrated following a brief
history of nausea and vomiting
1. What is the likely diagnosis?
2. Describe initial investigations
3. Describe initial management
A
  1. Malignant hypercalcaemia
  2. Repeat corrected serum
    calcium, urea and
    electrolytes and chest x-ray
  3. Normal saline infusion and
    i.v. Pamidronate
89
Q

18 year old lady presents with primary amenorrhoea, significant hirsuitism and cliteromegaly

  1. What is the likely diagnosis?
  2. Describe initial investigations
  3. Describe initial drug therapy
A
  1. Non-classical Congenital Adrenal Hyperplasia
  2. FSH, LH, testosterone, 17 α-
    hydroxyprogesterone, Synacthen test
  3. Dexamethasone, oral oestrogen, Cyproterone Acetate
90
Q 
58 year old man taking opiod analgesics for joint pains complains of loss of libido. His GP
has found low testosterone levels.
1. What is the likely cause of his
symptoms?
2. Describe initial investigations
3. Describe initial management
A
  1. Drug induced hypogonadism
  2. LH, FSH, testosterone, prolactin
  3. Drug withdrawal
91
Q 
65 year old lady from Bangladesh complains of bone tenderness and difficulty getting out of a chair. Her GP has noted a corrected serum calcium of 1.95 mmol/l (2.15-2.60), phosphate 0.6 mmol/l (0.8-1.5) and alkaline
phosphatase 140 i.u./l (40-129)
1. What is the likely diagnosis?
2. Describe initial investigations
3. Describe initial management
A
  1. Osteomalacia
  2. Repeat corrected serum calcium,
    phosphate, alkalkine
    phosphatase, PTH and 25
    hydroxy cholecalciferol
  3. Ergocalciferol
92
Q

55 year old hypertensive man is noted to have an adrenal “incidentaloma” while being investigated for probable Irritable Bowel Syndrome. He is not on drug therapy, although hypertensive, and his GP has noted persistent hypokalaemia

  1. What is the likely diagnosis?
  2. Describe initial investigations
A
  1. Conn’s Syndrome
  2. Repeat urea and electrolytes,
    rennin, aldosterone and 24hr
    urinary urea and electrolytes
93
Q

when investigating cushing’s disease (excess cortisol), what can a high dose 9am cortisol/midnight dexamethasone differentiate between?

A

an ectopic and a pituitary tumour

94
Q

when investigating cushing’s syndrome, what can ACTH levels differentiate between?

A

ectopic, adrenal or pituitary tumours

95
Q

following ACTH and low/high dose 9am cortisol following midnight dexamethasone tests, what results would you get for ectopic, adrenal and pituitary tumours?

A

Cushing syndrome caused by an adrenal tumor:
Low-dose test: no change (n = low)
ACTH level: low, as adrenal tumours are ACTH independent (n = low)
In most cases, the high-dose test is not needed

Cushing syndrome related to an ectopic ACTH-producing tumor:
Low-dose test: no change
ACTH level: high
High-dose test: no change (n= low)

Cushing syndrome caused by a pituitary tumor (Cushing disease)
Low-dose test: no change
ACTH level: normal/elevated
High-dose test: normal suppression

96
Q

what’s the theory behind 9am cortisol following midnight dexamethasone tests?

A

The low-dose test can help tell whether your body is producing too much ACTH. The high-dose test can help determine whether the problem is in the pituitary gland (Cushing disease).

Dexamethasone is a man-made (synthetic) steroid that is similar to cortisol. It reduces ACTH release in normal people. Therefore, taking dexamethasone should reduce ACTH level and lead to a decreased cortisol level.

If your pituitary gland produces too much ACTH, you will have an abnormal response to the low-dose test. But you can have a normal response to the high-dose test.

97
Q

which of the causes of cushing’s syndrome is ACTH independent?

A

adrenal tumour - releases cortisol, not ACTH

98
Q

what would you use to block cortisol synthesis?

A

metyaprone

99
Q

after taking which drug would you test the hormones in CAH?

A

synacthen

100
Q

how would you medically treat CAH?

A

dexamethasone - causes hirsutism
cyproterone + oestrogen
fludrocortisone + hydrocortisone (salt wasters)

101
Q

what are the causes of addisons disease?

A 
AI
TB
adrenal infiltration/infarction
tumours
haemochromotosis
bilateral adrenalectomy
AIDS
102
Q

how would you medically treat addisons?

A

dexamethasone - before results

hydrocortisone + fludrocortisone

103
Q

how would you investigate addisons?

A

synacthen - inadequate cortisol response

ACTH = raised

104
Q

what would conn’s look like biochemically?

renin/aldosterone

A

low renin

high aldosterone

105
Q

what is the chevostek sign?

A

abnormal reaction to the stimulation of the facial nerve with hypocalcaemia

106
Q

what is trousseau sign?

A

seen in hypocalcaemia

spasm of forearm muscles with raised BP in a cuff

107
Q

what can hypocalcaemia do to the QT interval?

A

prolong it

108
Q

what effect on PTH, Ca and K does hypomagnesaemia have?

A

decreases them all

109
Q

how could you medically treat turners?

A

oestrogen
thyroxine
GH
diabetic agents

110
Q

how could you medically treat female androgen excess?

A

cyproterone acetate - synthetic steroidal antiandrogen

oestrogen

111
Q

what happens to insulin in PCOS?

A

inc as resistant

DISEASE - endocrine and haem (5 decks)

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